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Kidney tubulopathy-dilated cardiomyopathy syndrome

ORPHA:73224 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(6)

  • Dilated cardiomyopathyHP:0001644
  • HypercalciuriaHP:0002150
  • HypermagnesiuriaHP:0012608
  • HypocalcemiaHP:0002901
  • Hypokalemic metabolic alkalosisHP:0001960
  • HypomagnesemiaHP:0002917

Frequent (79-30%)(13)

  • Abnormal renal tubular resorptionHP:0011038
  • ArthralgiaHP:0002829
  • Congestive heart failureHP:0001635
  • Hepatic calcificationHP:0006559
  • Hyperkinetic movementsHP:0002487
  • HyperprostaglandinuriaHP:0003527
  • Hypocalcemic tetanyHP:0003472
  • Increased circulating aldosterone concentrationHP:0000859
  • Myoclonic spasmsHP:0003739
  • NephrocalcinosisHP:0000121
  • Pericardial effusionHP:0001698
  • Pulmonary edemaHP:0100598
  • Sudden cardiac deathHP:0001645

Occasional (29-5%)(1)

  • Bilateral tonic-clonic seizureHP:0002069